Immunodeficiency Disorders Lecture Powerpoint Flashcards

8/26/19

1
Q

6 signs that immune system may not be functioning properly

A

1) 8 or more new ear infections in a year
2) two or more serious sinus infections in a year (particularly in kids)
3) two or more months on persistent antibiotics without relief
4) failure to thrive
5) oral thrush present after 1 year of age
6) recurrent need for IV antibiotics to clear infections

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2
Q

CMV opportunistic infeection

A

Causes eye disease that can lead to blindness in immunocompromised host as well as infants thru maternal delivery

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3
Q

Herpes simplex virus opportunistic infection

A

Very severe, recurrent, symptomatic herpes outbreaks can imply immunocompromised host

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4
Q

Mycobacterium avium complex opportunistic infection

A

Bacterial infection causing recurring fevers and malaise in immunocompromised host

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5
Q

Pneumocystis pneumonia (PCP) opportunistic infection

A

Fungal infection that can cause fatal pneumonia, fairly common in immunocompromised hosts

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6
Q

Toxoplasmosis

A

Protozoal infection of the brain often sourced from cat feces in immunocompromised hosts

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7
Q

Primary vs 2ndary immunodeficiencies

A

Primary are not attributable to other disease processes, 2ndary are such as DM, cushings, chemo

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8
Q

Significant molecule in the production of neutrophils and macrophages

A

Colony stimulating factor (G-CSF)

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9
Q

Congenital neutropenia (what type is it, what should you know about it)

A

Production disorder, rare, caused by an ELANE gene mutation

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10
Q

Cyclic neutropenia (what type is it, what should you know about it)

A

Production disorder, monthly rise and fall in wbc being produced, might see patient getting sick during those times but rarely impacts life significanly

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11
Q

Chediak Higashi syndrome(what type is it, what should you know about it)

A

Production disorder, autosomal recessive disorder resulting in partial albinisim, impaired phagolysosome production resulting in large granules, frequent bacterial infections, and peripheral neuropathy later in life

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12
Q

4 types of disorders around phagocytes

A

1) production
2) maturation
3) increased destruction
4) autoimmune

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13
Q

Maturation disorders of phagocytes (3)

A
  • nutritional B12/folate deficiency
  • myelodysplastic syndromes
  • viral infections
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14
Q

Disorders of increased destruction of phagocytes (3)

A
  • Antiboties
  • Vaccines
  • post infection disorders
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15
Q

Autoimmune disorders of phagocytes (4)

A
  • Felty syndrome
  • systemic lupus erythematosus
  • rheumatoid arthritis
  • transfusion reaction
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16
Q

Felty syndrome and the triad for diagnosis

A

Mostly assymptomatic, some develop serious and life threatening infections secondary to granulocytopenia

Rheumatoid arthritis, splenomegaly, neutropenia

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17
Q

Glucocorticosteroids positive and negative effects on the neutrophil

A

Positive - enhance production and mobilize marginated (peripheral pool ) into circulation
Negative - reduce adherence capacity and chemotactic properties

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18
Q

Measuring neutrophil count after taking prednisone will result in a…. because…

A

…falsely elevated result due to the mech of glucocorticosteroids drawing the neutrophils from the marginated pool to the circulation

19
Q

X linked agammaglobulinemia (bruton syndrome) notes (4)

A
  • tyrosine kinase enzyme is deficient preventing the progression of B cells in development
  • No mature B cells reach periopheral circulation
  • Lymphoid structures are hypoplastic
  • Found only in boys
20
Q

X linked agammaglobulinemia clinical presentation, common lab results

A

-increased infections detected after 5 months of age, low Ig, no B cells

21
Q

X linked agammaglobulinemia treatment and prognosis

A
  • Gamma globulin administration weekly
  • prophylatic antibiotics

-Excellent normal life span with lack of GI protection because IgA is skipping the gut

22
Q

Common variable acquired immune deficiency notes (4)

A
  • most common of treatable immunoglobulin deficit states
  • B cells do not respond to T cell signaling
  • Absence of helper T cells
  • Most common onset ages are between 6-8 and 15-35
23
Q

Common variable immune deficiency clinical presentation, common lab result

A

-Severe respiratory infections, malabsorption

Low Ig, B cells are immature with no plasma cells

24
Q

Common variable immune deficiency treatment an dprognosis

A

-Gamma globulin balanced between immunosuprression of autoimmune disease while still fighting infection

Good prognosis

25
Q

Hyper IgM syndromes definition, and how is it genetically favored?

A

Occur when T cell lacks signal to make B cell switch from making IgM to more specific IgG or A, either X linked or autosomal recessive

26
Q

Common clinical presentation of hyper IgM syndrome

A

Opportunistic pneumocystis jiroveci pneumonia in the 1st year of life

27
Q

Hyper IgM syndrome lab results

A
  • Neutropenia
  • High IgM
  • Very low IgA and G
  • Absent memory B cells
28
Q

Hyper IgM syndrome treatment and prognosis

A

Treated with IVIg, in the case of X linked dominant can be treated with a stem cell transplant

Prognosis is good for autosomal recessive and worse for X linked dominant requiring stem cell transplant and rarely live beyond 30

29
Q

Most common of all immunodeficiencies and what group does it affect the most?

A

IgA, caucasians

30
Q

Common clinical presentation of IgA deficiency and lab results

A

Recurrent bacterial infections of respiratory and GI origin, otherwise typically healthy

IgA tests show <5mg/dl for diagnosis

31
Q

IgA deficiency treatment and prognosis

A

No treatment beyond symptomatic,

good normal life expectancy

32
Q

Transient hypogammaglobulinemia of pregnancy definition

A

Low antibody in new born from birth to up to 3 years, due to infant not getting any maternal antibody, common and self limiting with no sequelae

33
Q

DiGeorge syndrome key points (4)

A
  • Deficit of T cells
  • Defect of chromosome 22 in 50% of cases
  • Results in poor or no development of several body systems
  • Has triad of absent thymus, absent parathyroid (hypocalcemia), tetralogy of Fallot
  • Facial congenital abnormalities
34
Q

DiGeorge syndrome labs

A
  • Low T cell cound
  • More CD4 than CD8
  • Hypocalcemia
35
Q

DiGeorge sydrome treatment and prognosis

A

Varies from no treatment all the way up to thymus transplant

Requires thymus transplant or marrow transplant

36
Q

Chronic mucocutaneous candidiasis definition

A

Functional deficit of T cell product cytokine that keeps candida in check

37
Q

Chronic mucocutaneous candidiasis clinical presentation and lab results

A

Recurrent or persistent severe skin and mucous membrane infections with scarring or disfigurement

KOH prep, HGB AIC , skin prick test

38
Q

Chronic mucocutaneous candidiasis treatment and prognosis

A

Systemic antifungals for treatment

Life expectancy is generally normal but can cause premature death in disseminated sepsis

39
Q

Severe combined immunodeficiency (SCID) definition

A

Complete lack of T and B cells,

40
Q

Severe combined immunodeficiency (SCID) clinical presentation and labs

A

Medical emergency, often see pneumocystis jiroveci infection

Low lymphocyte count, normal IgG, high IgE and A, low IgM

41
Q

Severe combined immunodeficiency (SCID) treatment and prognosis

A

Protection in bubble, IVIg, stem cell transplant even if unmatched

Delayed diagnosis has poor outcomes

42
Q

Wiskott Aldrich syndrome definition

A

Dysfunction of T cells

43
Q

Wiskott Aldrich syndrome triad of clinical presentation and Labs

A

Triad of eczema, thrombocytopenia, recurrent infections, bleeding and bruising

Low thrombocytes,

44
Q

Wiskott Aldrich syndrome treatment and prognosis

A

Fully matched stem cell transplant early in life, antibiotic prophylaxis, IVIg

Common to see autoimmune diseases and lymphoma